The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype-Reference-Cited by-同舟云学术

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The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

Published:2010-06 Issue:6 Volume:20 Page:403-406
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Alston Charlotte L.,Bender Andreas,Hargreaves Iain P.,Mundy Helen,Deshpande Charulata,Klopstock Thomas,McFarland Robert,Horvath Rita,Taylor Robert W.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. Mitochondrial DNA mutations in human disease;Taylor;Nature Rev Genet,2005

2. Prevalence of mitochondrial DNA disease in adults;Schaefer;Ann Neurol,2008

3. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation;Betts;Neurology,2008

4. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNAleu(UUR) gene (A3243T);Shaag;Biochem Biophys Res Commun,1997

5. Progressive cerebral vascular degeneration with mitochondrial encephalopathy;Longo;Am J Med Genet,2008

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases;Genes;2021-04-20

2. Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome;Human Genome Variation;2018-09-04

3. A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNASer(UCN) genes in a patient with hearing impairment, diabetes and congenital visual loss;Biochemical and Biophysical Research Communications;2013-01

4. Hitting the brakes: Termination of mitochondrial transcription;Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms;2012-09

5. Mitochondrial tRNA mutations associated with deafness;Mitochondrion;2012-05

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